ClinVar Miner

Variants from Albrecht-Kossel-Institute,Medical University Rostock with conflicting interpretations

Location: Germany — Primary collection method: research
Minimum review status of the submission from Albrecht-Kossel-Institute,Medical University Rostock: Collection method of the submission from Albrecht-Kossel-Institute,Medical University Rostock:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
27 5 0 4 3 10 6 14

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Albrecht-Kossel-Institute,Medical University Rostock likely pathogenic uncertain significance likely benign benign
pathogenic 4 1 0 0
likely pathogenic 0 4 0 0
uncertain significance 1 0 2 2
drug response 2 7 1 1

Submitter to submitter summary #

Total submitters: 15
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 1 0 3 2 0 4 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 4 0 4
GeneDx 0 0 0 0 0 4 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 0 3 0 3
Broad Institute Rare Disease Group, Broad Institute 0 6 0 0 1 0 2 3
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 2 0 2
Color Health, Inc 0 1 0 0 1 0 1 2
Gharavi Laboratory,Columbia University 0 0 0 0 0 2 0 2
Ambry Genetics 0 0 0 0 0 1 0 1
Natera, Inc. 0 1 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 0 0 0 1 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Biochemistry Metabolomics and Proteomics Laboratory,Necker Enfants Malades Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.2(GLA):c.724A>G (p.Ile242Val) rs397515873
NM_000169.2(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672

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